SELP : c.1807G>A

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.1807G>A	p.D603N (Asp > Asn)	substitution	missense	chr1:169566313 (reverse strand)	0.63864728

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.63864728 (ExAC mean allelic frequency), it is highly unlikely to be pathogenic.

Detection in Population Databases

Database	European	African	East Asian	South Asian	American	Finnish	Other	Total
ExAC	0.56068653 37372 / 66654	0.82765917 8606 / 10398	0.97211294 8401 / 8642	0.56106870 9261 / 16506	0.77761324 8927 / 11480	0.64846830 4276 / 6594	0.60508850 547 / 904	0.63864728 77390 / 121178
ESP	0.55837 4802 / 8600	0.81548 3593 / 4406						0.64547 8395 / 13006
1KG	0.57673 466 / 808	0.87292 1154 / 1322	0.95734 965 / 1008	0.57362 561 / 978	0.70029 486 / 694	0.64646 128 / 198		0.75080 3760 / 5008

View sub-population details for 1000 Genomes (1KG) data

Hide sub-population details for 1000 Genomes (1KG) data

0.51099 93 / 182 British	0.76230 93 / 122 African-American	0.96237 179 / 186 Chinese Dai	0.63953 110 / 172 Bengali	0.69149 130 / 188 Colombian
0.67290 144 / 214 Iberian	0.87500 168 / 192 African-Caribbean	0.96117 198 / 206 Han, Beijing	0.55825 115 / 206 Gujarati Indian	0.73438 94 / 128 Mexican, LA
0.59346 127 / 214 Toscani	0.88384 175 / 198 Esan, Nigeria	0.91827 191 / 208 Japanese	0.52941 108 / 204 Indian Telugu	0.81176 138 / 170 Peruvian
0.51515 102 / 198 Utah Europeans	0.92035 208 / 226 Gambian	0.96970 192 / 198 Kinh, Vietnam	0.53125 102 / 192 Punjabi, Lahore	0.59615 124 / 208 Puerto Rican
	0.83838 166 / 198 Luhya, Kenya	0.97619 205 / 210 Southern Han	0.61765 126 / 204 Tamil
	0.91765 156 / 170 Mende
	0.87037 188 / 216 Yoruba, Nigeria

The Exome Aggregation Consortium (ExAC) is a database of 60,706 unrelated individuals sequenced as part of various disease-specific and population genetic studies. There is partial overlap between ExAC and 1000 Genomes (1KG) (1,851 of the 2,504 samples in 1KG) and the Exome Sequencing Project (ESP) (3,936 of the 6,500 samples in ESP).

Other Variant & Gene Details

Canonical Sequences
Transcript	ENST00000263686		NM_003005.3
Protein	ENSP00000263686

Missense Variant Predictions
SIFT	Grantham	Polyphen-DIV	Polyphen-VAR	Summary 0% of algorithms have predicted that this variant will adversely affect protein function
tolerated	conservative	benign	benign
LRT	MutationTaster	MutationAssessor	FATHMM
neutral	polymorphism (auto)	neutral	tolerated

References

1. Roddy Walsh, Kate L. Thomson, James S. Ware, Birgit H. Funke, Jessica Woodley, Karen J. McGuire, Francesco Mazzarotto, Edward Blair, Anneke Seller, Jenny C. Taylor, Eric V. Minikel, Exome Aggregation Consortium, Daniel G. MacArthur, Martin Farrall, Stuart A. Cook and Hugh Watkins. Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. Genet Med. 2016 doi:10.1038/gim.2016.90.

2. Pugh TJ, Kelly MA, Gowrisankar S, Hynes E, Seidman MA, Baxter SM, Bowser M, Harrison B, Aaron D, Mahanta LM, Lakdawala NK, McDermott G, White ET, Rehm HL, Lebo M, Funke BH. The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. Genet Med. 2014 Aug;16(8):601-8.

3. Alfares AA, Kelly MA, McDermott G, Funke BH, Lebo MS, Baxter SB, Shen J, McLaughlin HM, Clark EH, Babb LJ, Cox SW, DePalma SR, Ho CY, Seidman JG, Seidman CE, Rehm HL. Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. Genet Med. 2015 Nov;17(11):880-8.